Figure 7 summarizes the heritable disorders identified to date that directly involve the RANKL/OPG/RANK signaling pathway in humans. Activating mutations in TNFRSF11A encoding RANK and deactivating mutations in TNFRSF11B encoding OPG cause systemic bone disease (FEO, PDB2, ESH and JPD) featuring accelerated bone turnover, low bone mass, deafness early in life, and loss of dentition by enhancing...

Giant Cell Tumours (GCT) of bone account for 5% of all primary bone tumours. Multicentric variety is a rare variant of this condition, accounting for less than 1% of all cases and can occur as synchronous or metachronous lesions. We report a 22-year-old male patient with 18 months history of painful progressive swellings around the right knee. Radiographs revealed expansile lytic lesions in the...

Primary chondrosarcoma is the third most frequent primary malignancy of bone after myeloma and osteosarcoma. It is ranging from slow growing nonmetastasising lesions to highly aggressive lesions. We report a case of primary intramedullary chondrosarcoma of proximal humerus. A 60-year-old female presented with pain and hard swelling involving the left arm for 5 months. Radiograph showed a lucent...

PURPOSE To report a case of cherubism with extensive, bilateral orbital involvement occurring in a 27-year-old woman who had the diagnosis established at the age of 4 years. DESIGN Single interventional case report. INTERVENTION Ophthalmologic examination and computed tomography were performed. The patient underwent multiple surgical excisions using a bicoronal and transorbital approach. Th...

CASE DESCRIPTION A 6-year-old neutered female mixed-breed dog was evaluated because of a 6-week history of left forelimb lameness that varied in severity. CLINICAL FINDINGS Radiography revealed expansile and lytic changes of the left accessory carpal bone (ACB). Results of histologic evaluation of ACB core biopsy specimens indicated areas of bone necrosis. The entire left ACB was excised and ...

Objectives This retrospective multicentre study compared the CT characteristics of cats diagnosed with intranasal mass lesions to determine if defining imaging features exist between different tumour types and neoplastic non-neoplastic lesions. Methods The medical records two institutions were reviewed for findings consistent an lesion subsequent histopathological examination. For each scan loc...

Cherubism is a rare bone dysplasia that is characterized by symmetrical bone resorption limited to the jaws. Bone lesions are filled with soft fibrous giant cell-rich tissue that can expand and cause severe facial deformity. The disorder typically begins in children at ages of 2-5 years and the bone resorption and facial swelling continues until puberty; in most cases the lesions regress sponta...

Primary tuberculosis osteomyelitis of metacarpal bone is rare. The majority of cases occur in children and young adults and there is difficulty in diagnosis mainly in young children. We report a new case in children aged of 3 years, presenting a swelling on the dorsal side of her right hand since 8 months. X-ray showed an expansile, cystic and lytic lesion involving the little finger metacarpal...

BACKGROUND Aneurysmal bone cyst is an expansile bone lesion, non-neoplastic in nature, occurring most commonly in long bones. It is uncommon in facial bones and exceptionally rare in ethmoid bone. Ten cases of aneurysmal bone cysts of ethmoid bone have been reported so far. CASE REPORT A young adolescent presented with decreased vision and pain in the right eye. MRI revealed an expansile lesi...